Privacy-Preserving Connectivity for Rare-Disease Patients

罕见疾病患者的隐私保护连接

• 批准号: 10834324
• 负责人: Adam Wesley Hansen
• 金额: $ 100万
• 依托单位: GENEIAL LLC
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-09-01 至 2025-06-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10834324
• 关键词: Acceleration; Address; Advocacy; Affect; Algorithms; Childhood; Clinical; Clinical Research; Clinical Trials; Collection; Communities; Complement; Computer software; Data; Data Aggregation; Data Collection; Data Set; Databases; Development; Diagnosis; Diagnostic; Disease; Ensure; FAIR principles; FDA approved; Family; Future; Generations; Genes; Genetic; Genetic Diseases; Genomic medicine; Genomics; Growth; Health; Health Insurance Portability and Accountability Act; Healthcare; Healthcare Systems; Incentives; Individual; Industry; Informed Consent; Infrastructure; Internet; Investments; Laboratories; Libraries; Manufacturer; Mendelian disorder; Mission; Ownership; Patient Recruitments; Patients; Performance; Pharmacologic Substance; Phase; Phenotype; Privacy; Privatization; Process; Rare Diseases; Registries; Research; Research Contracts; Research Personnel; Rights; Secure; Security; Structure; Syndrome; System; Technology; Testing; Therapeutic; Time; Translations; community engagement; community setting; cost; cryptography; dashboard; data exchange; data management; data privacy; data registry; data sharing; design; disease registry; encryption; genomic data; health data; individual patient; innovation; migration; open source; phenotypic data; population health; precision genomic medicine; preservation; prevent; privacy preservation; recruit; research and development; search engine; social media; therapeutic development; tool; user-friendly; web app; web platform

Abstract / Summary Safeguarding privacy of data assets – while simultaneously facilitating data sharing and exchange – is paramount to sustaining the value creation of genomics for precision medicine and population health. One of the most significant challenges for Xia-Gibbs Syndrome (XGS) research and rare disease studies in general is the lack of integrated, privacy-preserving platforms to facilitate efficient patient recruitment and data sharing. Rare disease datasets are fragmented, incomplete, and sparse. These barriers to data accessibility prevent efficient data aggregation, translation to clinical benefits, and disease promotion to the global patient and scientific communities. Without data sharing mechanisms that align incentives while preserving security and privacy, fragmented and siloed data will severely limit the value of genomic medicine in the future. We aim to address these issues by designing and developing components enabling a computationally feasible privacy-preserving rare disease community engagement platform, emphasizing FAIR (findable, accessible, interoperable, reusable) data principles. Specifically, we will deploy innovative cryptography technologies in the context of a web application streamlining interaction, data exchange, and analysis between patients, advocacy groups, researchers, and therapeutic developers. Building on our current secure, HIPAA-compliant infrastructure, in Phase I of this fast-track proposal we will onboard our existing XGS Registry to establish proof-of-concept while ensuring the platform is readily generalizable to other rare diseases. In Phase II, as we onboard two additional rare disease communities, we will implement software optimizations and GPU-acceleration to ensure the platform can scale to a data privacy- and ownership-preserving engagement platform and registry applicable to all rare disease communities and datasets. Ultimately, the approaches developed here will allow researchers and therapeutic developers expanded ability to search for and retrieve essential patient data for rare disease research. We anticipate the creation of such a tool will accelerate the growth of rare disease registries worldwide, creating positive externalities benefitting the entire industry by enabling widespread access to previously inaccessible data.

摘要 /摘要 保护数据资产的隐私 - 同时支持数据共享和 交流 - 维持基因组学价值的至关重要 医学和人口健康。 Xia-Gibbs最重要的挑战之一 综合征（XG）研究和罕见疾病研究通常是缺乏综合的， 隐私保护平台，以促进有效的患者招聘和数据共享。 稀有疾病数据集分散，不完整且稀疏。这些数据障碍 可访问性可防止有效的数据聚集，转化为临床益处和疾病 促进全球患者和科学社区。没有数据共享 保持激励措施同时保存安全和隐私，分散的机制 孤立的数据将在未来严重限制基因组医学的价值。 我们旨在通过设计和开发组件来解决这些问题，使 在计算上可行的保密性稀有疾病社区参与平台， 强调公平（可访问，可访问，可互操作，可重复使用）数据原理。 具体来说，我们将在网络上部署创新的加密技术 应用程序简化了患者之间的相互作用，数据交换和分析， 倡导组织，研究人员和治疗开发人员。以我们目前的安全为基础 符合HIPAA的基础设施，在此快速提案的第一阶段，我们将在我们的船上 现有的XGS注册表以建立概念证明，同时确保平台很容易 可推广到其他罕见疾病。在第二阶段，当我们登上另外两种稀有疾病时 社区，我们将实施软件优化和GPU加速，以确保 平台可以扩展到数据隐私和所有权的参与平台，以及 注册表适用于所有罕见疾病群落和数据集。 最终，这里开发的方法将允许研究人员和治疗 开发人员扩大了搜索和检索基本患者数据的稀有疾病的能力 研究。我们预计这种工具的创建将加速稀有疾病的生长 全球注册机构，创造了积极的外部性，使整个行业受益 可以允许宽度访问以前无法访问的数据。